上海交通大学学报（医学版）2026，Vol.46Issue(7)：829-838,10.DOI:10.3969/j.issn.1674-8115.2026.07.001
AI在口腔遗传病与罕见病机制研究及临床诊断中的应用进展
Applications and progress of AI in mechanistic research and clinical diagnosis of oral genetic and rare diseases
摘要
Abstract
Oral genetic and rare diseases are characterized by low prevalence,marked phenotypic heterogeneity,and complex pathogenic mechanisms.They often present with severe clinical manifestations,pose significant diagnostic challenges,and lack effective therapeutic options.With the rapid advancement of multi-omics sequencing and medical imaging technologies,large-scale molecular and clinical data have provided new perspectives for understanding these disorders.Artificial intelligence(AI),with its powerful capabilities in pattern recognition and modeling complex relationships,has achieved significant progress in both fundamental research and clinical diagnosis and treatment related to oral genetic and rare diseases.In studies of pathogenic mechanisms,AI enables the explanation of genomic,transcriptomic,proteomic,and microbiome data,facilitates the identification of novel molecular biomarkers,and supports the construction of disease prediction models,thereby advancing the elucidation of complex etiologies.In clinical diagnosis,AI significantly enhances the automation and accuracy of oral imaging analysis,enabling intelligent diagnosis of dental caries,tooth developmental anomalies,salivary gland diseases,fibrous dysplasia,and various craniofacial malformations.AI-based tools also provide decision support for surgical treatment planning.Despite these advances,challenges remain,including data scarcity,limited model interpretability,and ethical and regulatory concerns.This paper aims to provide a comprehensive review of the latest advancements in the application of AI in the field of oral genetic and rare diseases,systematically examining the progress,challenges,and prospects in deepening the understanding of disease mechanisms and accelerating clinical diagnosis,with the goal of ultimately promoting the overall advancement of precision medicine for oral genetic diseases and improving the accessibility of high-quality healthcare resources.关键词
人工智能/口腔遗传病与罕见病/致病机制/临床诊断/精准医学Key words
artificial intelligence(AI)/oral genetic and rare disease/pathogenic mechanism/clinical diagnosis/precision medicine分类
医药卫生引用本文复制引用
沈靖婷,柳稚旭,王旭东..AI在口腔遗传病与罕见病机制研究及临床诊断中的应用进展[J].上海交通大学学报（医学版）,2026,46(7):829-838,10.基金项目
国家自然科学基金(82370905) （82370905）
国家资助博士后研究人员计划(GZC20251220) （GZC20251220）
上海交通大学医学院"双百人"项目(20152225). National Natural Science Foundation of China(82370905) （20152225）
Postdoctoral Fellowship Program of CPSF(GZC20251220) （GZC20251220）
"Two-hundred Talents"Program of Shanghai Jiao Tong University School of Medicine(20152225). （20152225）
